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A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family
PURPOSE: Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS: A detailed family history and clinical data from pat...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291521/ https://www.ncbi.nlm.nih.gov/pubmed/22393272 |